Our Kids / Allison and Marcel Propionic Acidemia Allison is 14 years old and Marcel is 18 months old, both were diagnosed with Propionic Acidemia through newborn screening. Allison was hospitalized for a few days right after her diagnosis was
Fishing for New Drugs for Propionic Acidemia BY: VIRGINIA GINOCCHIONICOLA BRUNETTI-PIERRI, MD, FACMGASSOCIATE INVESTIGATORTELETHON INSTITUTE OF GENETICSAND MEDICINE VIA CAMPI FLEGREI 3480078 POZZUOLI (NAPOLI), ITALYASSOCIATE PROFESSORDEPARTMENT OF TRANSLATIONAL MEDICINEFEDERICO II UNIVERSITY OF NAPLES In the last decades careful clinical and
A wonderful experience in the air Traveling with our PA twins has really not been much of an option for us unless it’s a 3-4 hour drive at most. They are easily car sick and long road trips just don’t
Summer/Fall 2022 OAA Newsletter The digital version of the Summer/Fall 2022 Newsletter is available now. This issue features family stories, recent OAA graduates and conference photos. We have also included industry partner information. View Now > Click Here For More
Propionic Acidemia Nutritional Guidelines The Nutrition Guideline Committee is happy to announce that the Organic Acidemia Workgroup has published the “Propionic Acidemia (PROP) Nutrition Guidelines” in the February, 2019 issue of Molecular Genetics and Metabolism. The article is available and can
NHGRI selects Charles P. Venditti as new chief of the Metabolic Medicine Branch by: Sonja Soo, Ph.D. Venditti to provide leadership for clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
Welcome to the OAA Blog! Browse through articles covering OAA News, Our Kids, Nutrition and Journal Articles covering breakthrough research. The new OAA blog is where we will be posting regular updates, sharing our latest community news, and publishing stories
What causes high ammonia and glycine in MMA? New insight into disease mechanisms from mouse and human tissues and a possible new treatment. MMA produces unique protein modifications that contribute to disease Dr. Charles Venditti’s lab at the National Institutes
Point-of-Care Ammonia Monitoring from a Single Drop of Blood Thomas Veltman, Ph.D., Aza Technology, Inc.tv@azatechnology.com In an earlier article in this newsletter, I described my efforts, along with a team of other researchers, towards producing a point-of-care ammonia meter with
PA Study at the NIH Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia Dr. Chuck Venditti and Dr. Oleg Shchelochkov seek Propionic Acidemia patients for their study. Hi – We are happy to announce that the NIH has
